Reviewed November 2006
What is the official name of the MYO6 gene?
The official name of this gene is “myosin VI.”
MYO6 is the gene's official symbol. The MYO6 gene is also known by other names, listed below.
What is the normal function of the MYO6 gene?
The MYO6 gene provides instructions for making a protein called myosin VI, which is part of a group of proteins called unconventional myosins. These proteins, which have similar structures, each play a role in transporting molecules within cells. Myosins interact with actin, a protein that is important for cell movement and shape. Researchers believe that myosins use long filaments of actin as tracks along which to transport other molecules.
Myosin VI is produced in the inner ear as well as in many other cell types. In the inner ear, myosin VI plays a role in the development and maintenance of hairlike projections called stereocilia. Stereocilia, which are rich in actin, line the inner ear and bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses, which is an essential process for normal hearing.
Does the MYO6 gene share characteristics with other genes?
The MYO6 gene belongs to a family of genes called myosins (myosins).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the MYO6 gene related to health conditions?
- nonsyndromic deafness - caused by mutations in the MYO6 gene
At least three mutations in the MYO6 gene have been identified in people with a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNB37. These mutations cause an autosomal recessive form of nonsyndromic deafness. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. Some of these mutations lead to changes in single amino acids (the building blocks of proteins) in the myosin VI protein. Other mutations cause the cell to produce an abnormally short version of myosin VI. MYO6 mutations probably alter the function of myosin VI, which disrupts the structure and organization of stereocilia and leads to hearing loss.
At least one mutation in the MYO6 gene causes an autosomal dominant form of nonsyndromic hearing loss called DFNA22. Autosomal dominant inheritance means that one altered copy of the gene in each cell is sufficient to cause the condition. This mutation leads to a change in a single amino acid in a critical region of the myosin VI protein, impairing its normal function. Altering the function of myosin VI disrupts the structure and organization of stereocilia, leading to hearing loss. Additionally, there is evidence that a mutation in the MYO6 gene can cause heart problems in some affected individuals.
Where is the MYO6 gene located?
Cytogenetic Location: 6q13
Molecular Location on chromosome 6: base pairs 75,749,176 to 75,919,537
The MYO6 gene is located on the long (q) arm of chromosome 6 at position 13.
More precisely, the MYO6 gene is located from base pair 75,749,176 to base pair 75,919,537 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about MYO6?
You and your healthcare professional may find the following resources about MYO6 helpful.
Educational resources - Information pages
- Neuroscience (second edition, 2001): Hair Cells and the Mechanoelectrical Transduction of Sound Waves (http://www.ncbi.nlm.nih.gov/books/NBK10867/)
- The Cell: A Molecular Approach (second edition, 2000): Unconventional Myosins (http://www.ncbi.nlm.nih.gov/books/NBK9961/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1434)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for MYO6 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4646%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28MYO6%5BTIAB%5D%29%20OR%20%28myosin%20VI%5BTIAB%5D%29%29%20OR%20%28%28DFNA22%5BTIAB%5D%29%20OR%20%28DFNB37%5BTIAB%5D%29%20OR%20%28KIAA0389%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/600970)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_MYO6.html)
- Harvard Medical School Center for Hereditary Deafness (http://hearing.harvard.edu/db/genelist.htm)
- HGNC Gene Family: Myosins, class VI (http://www.genenames.org/cgi-bin/genefamilies/set/1101)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=7605)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4646)
- The Hereditary Hearing Loss Homepage (http://hereditaryhearingloss.org/)
What other names do people use for the MYO6 gene or gene products?
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding MYO6?
amino acid ;
autosomal dominant ;
autosomal recessive ;
critical region ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RC, Husnain T, Khan SN, Riazuddin S, Griffith AJ, Friedman TB, Wilcox ER. Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet. 2003 May;72(5):1315-22. Epub 2003 Apr 8. (http://www.ncbi.nlm.nih.gov/pubmed/12687499?dopt=Abstract)
- Breckler J, Au K, Cheng J, Hasson T, Burnside B. Novel myosin VI isoform is abundantly expressed in retina. Exp Eye Res. 2000 Jan;70(1):121-34. (http://www.ncbi.nlm.nih.gov/pubmed/10644428?dopt=Abstract)
- Cramer LP. Myosin VI: roles for a minus end-directed actin motor in cells. J Cell Biol. 2000 Sep 18;150(6):F121-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10995456?dopt=Abstract)
- Finsterer J, Fellinger J. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):621-47. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15850684?dopt=Abstract)
- Hasson T. Myosin VI: two distinct roles in endocytosis. J Cell Sci. 2003 Sep 1;116(Pt 17):3453-61. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12893809?dopt=Abstract)
- Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. Am J Hum Genet. 2001 Sep;69(3):635-40. Epub 2001 Jul 20. (http://www.ncbi.nlm.nih.gov/pubmed/11468689?dopt=Abstract)
- Mohiddin SA, Ahmed ZM, Griffith AJ, Tripodi D, Friedman TB, Fananapazir L, Morell RJ. Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6). J Med Genet. 2004 Apr;41(4):309-14. (http://www.ncbi.nlm.nih.gov/pubmed/15060111?dopt=Abstract)
- OMIM: MYOSIN VI (http://omim.org/entry/600970)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4646)
- Wells AL, Lin AW, Chen LQ, Safer D, Cain SM, Hasson T, Carragher BO, Milligan RA, Sweeney HL. Myosin VI is an actin-based motor that moves backwards. Nature. 1999 Sep 30;401(6752):505-8. (http://www.ncbi.nlm.nih.gov/pubmed/10519557?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.